Topic Contents

Congenital Adrenal Hyperplasia

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Congenital Adrenal Hyperplasia is not the name you expected.

Disorder Subdivisions

None

General Discussion

Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH effects the adrenal glands located at the top of each kidney. Normally, the adrenal glands are responsible for producing three different hormones: 1. Corticosteroids, which gauge the body's response to illness or injury; 2. Mineralocorticoids, which regulate salt and water levels; and 3. Androgens, which are male sex hormones. An enzyme deficiency will make the body unable to produce one or more of these hormones, which in turn will result in the overproduction of another type of hormone precursor in order to compensate for the loss.

The most common cause of CAH is the absence of the enzyme 21-hydroxylase. Different mutations in the gene responsible for 21-hydroxylase result in different levels of the enzyme, producing a spectrum of effects. CAH due to 21-hydroxylase deficiency is responsible for 95% of all cases of CAH and is broken down further into two subcategories: classical CAH, which can be sub-divided into the salt-losing form or the simple-virilizing form, and non-classical CAH. Classical CAH is by far the more severe form and can result in adrenal crisis and death if not detected and treated. Non-classical CAH is milder, and may or may not present symptoms. Since the absence of 21-hydroxylase makes these individuals unable to make the hormone cortisol and, in the case of salt-losing CAH, aldosterone, the body produces more androgens which cause a variety of symptoms such as abnormal genital development in infant girls.

There are other much rarer forms of CAH as well, including 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, and congenital lipoid adrenal hyperplasia, which all present different symptoms. Although CAH is not curable, as long as patients receive adequate care and treatment, they can go on to lead normal lives.

Supporting Organizations

Accord Alliance

531 Route 22 East #244

Whitehouse Station, NJ 08889

USA

Tel: (908) 349-0534

Fax: (801) 349-0534

Email: janet.green@accordalliance.org

Website: http://www.accordalliance.org

Ambiguous Genitalia Support Network

P.O. Box 313

Clements, CA 95227-0313

USA

Tel: (209)727-0313

CARES Foundation, Inc.

2414 Morris Avenue, Suite 110

Union, NJ 07083

Tel: (908)364-0272

Fax: (908)686-2019

Tel: (866)227-3737

Email: contact@caresfoundation.org

Website: http://www.caresfoundation.org

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Website: http://www.CLIMB.org.uk

CLIMB CAH Support Group

C/O Climb Building

176 Nantwich Road

Crew, Cheshire CW2 6BG

United Kingdom

Tel: 0870 7700 326

Tel: 8006523181

Email: webmaster@cah.org.uk

Website: http://www.livingwithcah.com/

Child Growth Foundation

Tel: 020 8995 0257

Email: info@childgrowthfoundation.org

Website: http://www.childgrowthfoundation.org

Congenital Adrenal Hyperplasia Education and Support Network

19724 East Pine #149

Catossa, OK 74015

USA

Tel: (918)604-4039

Email: support@congenitaladrenalhyperplasia.org

Website: http://www.congenitaladrenalhyperplasia.org

Congenital Adrenal Hyperplasia Support Group

PO Box 66

Waihi

Hauraki, 3641

New Zealand

Tel: 6433584507

Fax: 6433584506

Tel: 800224698

Email: info.CAHNZ@gmail.com

Website: http://www.cah.org.nz/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hormone Health Network Endocrine Society

2055 L Street NW

Suite 600

Washington, DC 20036

Tel: (202)971-3636

Fax: (202)736-9705

Tel: (888)363-6274

Email: hormone@endocrine.org

Website: http://www.hormone.org/

MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: contactus@magicfoundation.org

Website: http://www.magicfoundation.org

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

Bethesda, MD 20892

Fax: (866)760-5947

Tel: (800)370-2943

Email: NICHDInformationResourceCenter@mail.nih.gov

Website: http://www.nichd.nih.gov/

National Adrenal Diseases Foundation

505 Northern Bloulevard

Great Neck, NY 11021

USA

Tel: (516)487-4992

Fax: (516)829-5710

Email: nadfsupport@nadf.us

Website: http://www.nadf.us/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 4/29/2015Copyright 2015 National Organization for Rare Disorders, Inc.

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